自闭症谱系障碍（ASD）概述与介绍
Overview and Introduction to Autism Spectrum Disorder (ASD).
作者信息
Al-Dewik Nader, Al-Jurf Rana, Styles Meghan, Tahtamouni Sona, Alsharshani Dalal, Alsharshani Mohammed, Ahmad Amal I, Khattab Azhar, Al Rifai Hilal, Walid Qoronfleh M
机构信息
Clinical and Metabolic Genetics Section, Pediatrics Department, Hamad General Hospital (HGH), Women's Wellness and Research Center (WWRC) and Interim Translational Research Institute (iTRI), Hamad Medical Corporation (HMC), Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University (HBKU), Doha, Qatar.
出版信息
Adv Neurobiol. 2020;24:3-42. doi: 10.1007/978-3-030-30402-7_1.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder generally manifesting in the first few years of life and tending to persist into adolescence and adulthood. It is characterized by deficits in communication and social interaction and restricted, repetitive patterns of behavior, interests, and activities. It is a disorder with multifactorial etiology. In this chapter, we will focus on the most important and common epidemiological studies, pathogenesis, screening, and diagnostic tools along with an explication of genetic testing in ASD.
自闭症谱系障碍（ASD）是一种复杂的神经发育障碍，通常在生命的最初几年出现，并往往持续到青少年期和成年期。其特征是沟通和社交互动方面存在缺陷，以及行为、兴趣和活动模式受限且重复。这是一种病因多因素的疾病。在本章中，我们将重点关注最重要且常见的流行病学研究、发病机制、筛查和诊断工具，以及对ASD基因检测的阐释。
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